Canonical Allele Identifier: CA375117325
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 640685
ClinVar RCV Id: RCV000793763 RCV004027456
dbSNP Id: rs1294479059
gnomAD v2: 9-131708226-C-G
gnomAD v3: 9-128945947-C-G
gnomAD v4: 9-128945947-C-G
MyVariant Identifiers: chr9:g.131708226C>G (hg19) chr9:g.128945947C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945947C>G , CM000671.2:g.128945947C>G GRCh38
NC_000009.11:g.131708226C>G , CM000671.1:g.131708226C>G GRCh37
NC_000009.10:g.130748047C>G NCBI36
NG_017009.1:g.6787G>C , LRG_744:g.6787G>C
NG_033111.1:g.3255C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1357G>C MANE Select ENSP00000361667.3:p.Val453Leu
ENST00000372586.3:c.1357G>C ENSP00000361667.3:p.Val453Leu
ENST00000482796.1:c.39-3242C>G ENSP00000417556.2:n.39-3242C>G
NM_014908.3:c.1357G>C , LRG_744t1:c.1357G>C NP_055723.1:p.Val453Leu
NM_014908.4:c.1357G>C MANE Select NP_055723.1:p.Val453Leu
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